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Quoted phrase not found in phrase index: "Hereditary spastic paraplegia 3A"
Page 1
Clinical and genetic characterization of hereditary spastic paraplegia type 3A in Taiwan.
Hsu SL, Hsueh HW, Chen SY, Chang YY, Tan S, Hong CT, Tsai YS, Yu KW, Wu HM, Liao YC, Soong BW, Hu CJ, Lan MY, Lee YC. Hsu SL, et al. Parkinsonism Relat Disord. 2021 Jun;87:87-91. doi: 10.1016/j.parkreldis.2021.05.004. Epub 2021 May 11. Parkinsonism Relat Disord. 2021. PMID: 34015694
AIM: To investigate the clinical and genetic features of hereditary spastic paraplegia (HSP) type 3A (SPG3A) in Taiwan. METHODS: Mutational analysis of the ATL1 gene was performed for 274 unrelated Taiwanese HSP patients. ...The SPG3A patients received …
AIM: To investigate the clinical and genetic features of hereditary spastic paraplegia (HSP) type 3A (SPG3A) in …
Paediatric-onset hereditary spastic paraplegias: a retrospective cohort study.
Schiavoni S, Spagnoli C, Rizzi S, Salerno GG, Frattini D, Pisani F, Fusco C. Schiavoni S, et al. Dev Med Child Neurol. 2020 Sep;62(9):1068-1074. doi: 10.1111/dmcn.14547. Epub 2020 Apr 10. Dev Med Child Neurol. 2020. PMID: 32277485 Free article.
RESULTS: Complex forms prevailed slightly (n=26), autosomal dominant being the main inheritance pattern (n=11), followed by recessive (n=5) and X-linked (n=1). A definite genetic diagnosis was achieved in 17 patients. Spastic paraplegia 3A (n=4) was the most …
RESULTS: Complex forms prevailed slightly (n=26), autosomal dominant being the main inheritance pattern (n=11), followed by recessive (n=5) …
Extremely severe complicated spastic paraplegia 3A with neonatal onset.
Yonekawa T, Oya Y, Higuchi Y, Hashiguchi A, Takashima H, Sugai K, Sasaki M. Yonekawa T, et al. Pediatr Neurol. 2014 Nov;51(5):726-9. doi: 10.1016/j.pediatrneurol.2014.07.027. Epub 2014 Jul 24. Pediatr Neurol. 2014. PMID: 25193411
BACKGROUND: Spastic paraplegia 3A typically manifests in childhood as an uncomplicated form of hereditary spastic paraplegia with slow progression. ...PATIENT: We describe a 12-year-old boy with neonatal onset of extremely severe complica …
BACKGROUND: Spastic paraplegia 3A typically manifests in childhood as an uncomplicated form of hereditary spa …
Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.
Park H, Kang SH, Park S, Kim SY, Seo SH, Lee SJ, Lee JA, Cho SI, Sung JJ, Lee KW, Kim JY, Park SS, Seong MW. Park H, et al. J Neurol Sci. 2015 Oct 15;357(1-2):167-72. doi: 10.1016/j.jns.2015.07.024. Epub 2015 Jul 17. J Neurol Sci. 2015. PMID: 26208798
Hereditary spastic paraplegia (HSP) is a genetically heterogeneous group of diseases characterized by insidiously progressive lower-extremity weakness and spasticity. Spastic paraplegia 4 (SPAST) is the most common type of uncomplicated autosoma …
Hereditary spastic paraplegia (HSP) is a genetically heterogeneous group of diseases characterized by insidiously progr …
Very early onset and severe complicated phenotype caused by a new spastic paraplegia 3A gene mutation.
Fusco C, Frattini D, Farnetti E, Nicoli D, Casali B, Della Giustina E. Fusco C, et al. J Child Neurol. 2012 Oct;27(10):1348-50. doi: 10.1177/0883073811435245. Epub 2012 Feb 28. J Child Neurol. 2012. PMID: 22378671
Spastic paraplegia 3A is the second most common form of hereditary autosomal dominant spastic paraplegia. ...We describe a patient carrying a new C>T P344S>CT mutation in exon 10 of the spastic paraplegia 3A gen …
Spastic paraplegia 3A is the second most common form of hereditary autosomal dominant spastic parapleg …
SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report.
Koh K, Takaki R, Ishiura H, Tsuji S, Takiyama Y. Koh K, et al. BMC Neurol. 2021 Feb 11;21(1):64. doi: 10.1186/s12883-021-02087-x. BMC Neurol. 2021. PMID: 33573605 Free PMC article.
BACKGROUND: ALDH18A1 mutations lead to delta-1-pyrroline-5-carboxylate-synthetase (P5CS) deficiency, which is a urea cycle-related disorder including SPG9A, SPG9B, autosomal dominant cutis laxa-3 (ADCL3), and autosomal recessive cutis laxa type 3A (ARCL3A). These diseases …
BACKGROUND: ALDH18A1 mutations lead to delta-1-pyrroline-5-carboxylate-synthetase (P5CS) deficiency, which is a urea cycle-related disorder …
A novel homozygous variant in ATL1 associated with early onset spastic paraplegia 3A: Further evidence for autosomal recessive inheritance.
Darouich S, Darouich S. Darouich S, et al. Am J Med Genet A. 2024 Mar;194(3):e63464. doi: 10.1002/ajmg.a.63464. Epub 2023 Nov 6. Am J Med Genet A. 2024. PMID: 37927245
Spastic paraplegia 3A (SPG3A) has long been considered as an autosomal dominant disorder till the report in 2014 and 2016 of two consanguineous Arabic families, showing that ATL1 mutations may cause autosomal recessive paraplegia. ...
Spastic paraplegia 3A (SPG3A) has long been considered as an autosomal dominant disorder till the report in 2014 and 20 …
Retrospective study of the investigations of children presenting with lower limbs spasticity in a single institution.
Spagnoli C, de Sousa C. Spagnoli C, et al. Neuropediatrics. 2014 Apr;45(2):109-16. doi: 10.1055/s-0033-1363297. Epub 2013 Dec 21. Neuropediatrics. 2014. PMID: 24363206
METHODS: Clinical documents regarding children referred to our institution for the diagnostic investigation of spastic diplegia and receiving their first clinical appointment between the July 1, 2010, and the December 31, 2010, were identified in our electronic database. . …
METHODS: Clinical documents regarding children referred to our institution for the diagnostic investigation of spastic diplegia and r …